V264A (p.Val264Ala) variant of FOXG1 (Forkhead box protein G1)
V264A (p.Val264Ala) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
V264A (p.Val264Ala) variant details
- p.Val264Ala
- rs1881808715
- ClinGen CA389475883
- ClinVar RCV001210280
- Ensembl rs1881808715
- Uncertain significance
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.84
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.48
- ClinVar: Uncertain significance (FOXG1 disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)